Canonical Allele Identifier: CA385043710

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53314817T>C , CM000674.2:g.53314817T>C	GRCh38
NC_000012.11:g.53708601T>C , CM000674.1:g.53708601T>C	GRCh37
NC_000012.10:g.51994868T>C	NCBI36
NG_016775.1:g.11812A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.479A>G MANE Select	NP_056480.1:p.His160Arg
ENST00000209873.9:c.479A>G MANE Select	ENSP00000209873.4:p.His160Arg
NM_001173466.1:c.446+277A>G	NP_001166937.1:n.446+277A>G
NM_001173466.2:c.446+277A>G	NP_001166937.1:n.446+277A>G
NM_015665.5:c.479A>G	NP_056480.1:p.His160Arg
ENST00000209873.8:c.479A>G	ENSP00000209873.4:p.His160Arg
ENST00000394384.7:c.446+277A>G	ENSP00000377908.3:n.446+277A>G
ENST00000546393.6:n.67A>G
ENST00000546393.7:n.1015A>G
ENST00000546562.6:n.1234A>G
ENST00000547238.5:n.872A>G
ENST00000547238.6:n.1115A>G
ENST00000547520.5:n.183A>G
ENST00000547520.6:n.473A>G
ENST00000547757.1:c.446+277A>G	ENSP00000448020.1:n.446+277A>G
ENST00000547757.2:c.-407+277A>G	ENSP00000448020.2:n.-407+277A>G
ENST00000547761.6:n.371A>G
ENST00000548258.5:n.507A>G
ENST00000548880.2:n.929A>G
ENST00000549450.5:n.473A>G
ENST00000549450.6:n.413A>G
ENST00000549821.5:n.477A>G
ENST00000549983.5:n.502A>G
ENST00000550286.5:c.107A>G	ENSP00000446885.1:p.His36Arg
ENST00000551724.5:n.529A>G
ENST00000552161.6:n.1435A>G
ENST00000552876.5:n.888+277A>G
ENST00000672797.1:n.932A>G
ENST00000672900.1:n.968A>G
XM_006719617.2:c.494A>G	XP_006719680.1:p.His165Arg
XM_006719619.2:c.494A>G	XP_006719682.1:p.His165Arg
XM_011538777.1:c.494A>G	XP_011537079.1:p.His165Arg
XM_011538778.1:c.479A>G	XP_011537080.1:p.His160Arg
XM_011538778.2:c.479A>G	XP_011537080.1:p.His160Arg
XM_011538779.1:c.461+277A>G	XP_011537081.1:n.461+277A>G
XM_011538780.1:c.446+277A>G	XP_011537082.1:n.446+277A>G
XM_011538780.2:c.446+277A>G	XP_011537082.1:n.446+277A>G
XR_001748875.2:n.566+277A>G